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Blue nevus

MedGen UID:
104930
Concept ID:
C0206736
Neoplastic Process
Synonym: Jadassohn's blue nevus
SNOMED CT: Blue nevus (63166000); Jadassohn's blue nevus (63166000); Dermal melanocytoma (63166000); Blue nevus of skin (254806009)
 
HPO: HP:0100814
Monarch Initiative: MONDO:0006680

Definition

A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. [from HPO]

Conditions with this feature

Intellectual disability, autosomal dominant 53
MedGen UID:
1623344
Concept ID:
C4540481
Mental or Behavioral Dysfunction
Suleiman-El-Hattab syndrome
MedGen UID:
1738652
Concept ID:
C5436458
Disease or Syndrome
Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019).
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Custer PL, Council ML
Orbit 2024 Feb;43(1):8-15. Epub 2023 Jan 23 doi: 10.1080/01676830.2023.2169717. PMID: 36688501
Yaman B, Kandiloğlu G, Kumbaraci BS, Akalin T
Turk Patoloji Derg 2015;31(2):89-94. doi: 10.5146/tjpath.2014.01296. PMID: 25690862
González-Cámpora R, Galera-Davidson H, Vázquez-Ramírez FJ, Díaz-Cano S
Pathol Res Pract 1994 Jun;190(6):627-35. doi: 10.1016/S0344-0338(11)80402-4. PMID: 7984522

Recent clinical studies

Etiology

de la Fouchardiere A
Pathology 2023 Mar;55(2):187-195. Epub 2022 Dec 28 doi: 10.1016/j.pathol.2022.12.342. PMID: 36641378
de la Fouchardiere A, Tirode F, Castillo C, Buisson A, Boivin F, Macagno N, Pissaloux D
Am J Surg Pathol 2022 Aug 1;46(8):1106-1115. Epub 2022 Mar 22 doi: 10.1097/PAS.0000000000001888. PMID: 35319526
Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Daltro LR, Yaegashi LB, Freitas RA, Fantini BC, Souza CD
An Bras Dermatol 2017 Jan-Feb;92(1):110-112. doi: 10.1590/abd1806-4841.20174502. PMID: 28225968Free PMC Article
Sugianto JZ, Ralston JS, Metcalf JS, McFaddin CL, Smith MT
Semin Diagn Pathol 2016 Jul;33(4):219-24. Epub 2016 Apr 19 doi: 10.1053/j.semdp.2016.04.006. PMID: 27199078

Diagnosis

Zembowicz A
Clin Lab Med 2017 Sep;37(3):401-415. Epub 2017 Jul 4 doi: 10.1016/j.cll.2017.05.001. PMID: 28802492
Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Longo C, Scope A, Lallas A, Zalaudek I, Moscarella E, Gardini S, Argenziano G, Pellacani G
Dermatol Clin 2013 Oct;31(4):637-47, ix. Epub 2013 Aug 23 doi: 10.1016/j.det.2013.07.001. PMID: 24075551
Dailey VL, Hameed O
Arch Pathol Lab Med 2011 Jun;135(6):799-802. doi: 10.5858/2010-0022-RS.1. PMID: 21631277
Campos-do-Carmo G, Ramos-e-Silva M
Int J Dermatol 2008 Jul;47(7):712-9. doi: 10.1111/j.1365-4632.2008.03556.x. PMID: 18613881

Therapy

Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
Zhou J, Zhao Z, Sun T, Liu W, Yu Z, Liu J, Yu Y, Ning S, Zhang H
Am J Gastroenterol 2021 May 1;116(5):1044-1052. doi: 10.14309/ajg.0000000000001117. PMID: 33416235
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M
Dig Liver Dis 2019 Nov;51(11):1537-1546. Epub 2019 Jul 26 doi: 10.1016/j.dld.2019.04.020. PMID: 31358484
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article
Nakamura Y, Shibata-Ito M, Nakamura Y, Ishitsuka Y, Fujisawa Y, Kawachi Y, Otsuka F
Pediatr Dermatol 2012 Sep-Oct;29(5):651-5. Epub 2012 Jan 26 doi: 10.1111/j.1525-1470.2011.01662.x. PMID: 22277073

Prognosis

Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Phadke PA, Zembowicz A
Clin Lab Med 2011 Jun;31(2):345-58. doi: 10.1016/j.cll.2011.03.011. PMID: 21549247
Anderco D, Lazăr E, Tăban S, Miclea F, Dema A
Rom J Morphol Embryol 2010;51(3):555-7. PMID: 20809037
Barnhill RL, Gupta K
Clin Dermatol 2009 Nov-Dec;27(6):564-87. doi: 10.1016/j.clindermatol.2008.09.015. PMID: 19880044
Richards HW, Medrano EE
Pigment Cell Melanoma Res 2009 Feb;22(1):14-29. Epub 2008 Nov 27 doi: 10.1111/j.1755-148X.2008.00534.x. PMID: 19040501

Clinical prediction guides

de la Fouchardiere A
Pathology 2023 Mar;55(2):187-195. Epub 2022 Dec 28 doi: 10.1016/j.pathol.2022.12.342. PMID: 36641378
de la Fouchardiere A, Tirode F, Castillo C, Buisson A, Boivin F, Macagno N, Pissaloux D
Am J Surg Pathol 2022 Aug 1;46(8):1106-1115. Epub 2022 Mar 22 doi: 10.1097/PAS.0000000000001888. PMID: 35319526
Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Simons SA, Bridge JA, Leon ME
Semin Diagn Pathol 2016 Mar;33(2):91-103. Epub 2015 Sep 10 doi: 10.1053/j.semdp.2015.09.010. PMID: 26585346
Mehregan DA, Mehregan AH
Arch Dermatol 1993 Mar;129(3):328-31. PMID: 8447669

Recent systematic reviews

Rimondi A, Sorge A, Murino A, Nandi N, Scaramella L, Vecchi M, Tontini GE, Elli L
Dig Endosc 2024 Feb;36(2):162-171. Epub 2023 May 9 doi: 10.1111/den.14564. PMID: 37029779
Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
Wong XL, Phan K, Rodríguez Bandera AI, Sebaratnam DF
J Paediatr Child Health 2019 Feb;55(2):152-155. Epub 2018 Dec 18 doi: 10.1111/jpc.14345. PMID: 30565378

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